Late-onset retinal degeneration

Definition:

Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. LORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions.

References:

[1]. A H Milam, et al. Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. Ophthalmology. 2000 Dec;107(12):2256-66. [Content Brief]

[2]. Ajoy Vincent, et al. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina. 2012 Sep;32(8):1643-51. [Content Brief]

[3]. Caroline Hayward, et al. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum Mol Genet. 2003 Oct 15;12(20):2657-67. [Content Brief]

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